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A Cytoplasmic Suppressor of a Nuclear Mutation Affecting Mitochondrial Functions inDrosophila

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The overexpression of twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

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Mitochondria and mtDNA integrity in stem cell function and differentiation

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Mitochondria metabolomics reveals a role of β-nicotinamide mononucleotide metabolism in mitochondrial DNA replication

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Structural and dynamic basis of DNA capture and translocation by mitochondrial Twinkle helicase

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Association between mitochondrial DNA copy number and production traits in pigs

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Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype

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Lesions of the mitochondrial genome and ways of its preservation

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Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report

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Identification of genetic mechanisms of non-isolated auditory neuropathy with various phenotypes in Chinese families

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Disturbances in mitochondrial DNA maintenance in neuromuscular disorders and valproate-induced liver toxicity

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Mitochondrial Disease: Maintenance of Mitochondrial Genome and Molecular Diagnostics

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Mutation of TWNK Gene Is One of the Reasons of Runting and Stunting Syndrome Characterized by mtDNA Depletion in Sex-Linked Dwarf Chicken

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Mitochondria-targeting siRNA screening identifies mitochondrial calcium uniporter as a factor involved in nucleoid morphology

Kanon, H., Ishihara, T., Ban-Ishihara, R., Ota, A., Yasuda, T., Ichikawa, A., Ueyama, R., Baba, T., Takeda, K., Ogasawara, E., et al. (2025) · The Journal of Biochemistry · doi:10.1093/jb/mvaf008 · Cited by 3

Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances

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Mitochondrial DNA depletion syndrome and its cardiac complication

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Purification Strategy for Recombinant Formsof the Human Mitochondrial DNA Helicase

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Mitochondrial Genomics and Targeted Toxicities

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Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review

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Localization of Mitochondrial Nucleoids by Transmission Electron Microscopy Using the Transgenic Expression of the Mitochondrial Helicase Twinkle and APEX2

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Single-molecule fluorescence reveals the DNA unwinding mechanism of mitochondrial helicase TWINKLE and its interplay with single-stranded DNA-binding proteins

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Mitochondrial helicase Twinkle in mtDNA copy number regulation and a late-onset disease model

Tyynismaa, H. (2007) · Työväentutkimus Vuosikirja

High mitochondrial DNA copy number has detrimental effects in mice

Ylikallio, E., Tyynismaa, H., Tsutsui, H., Ide, T., & Suomalainen, A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq163 · Cited by 136

TWINKLE and Other Human Mitochondrial DNA Helicases: Structure, Function and Disease

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Distinct Roles of the Mitochondrial DNA Helicase Twinkle in Drosophila Neurons and Muscles

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TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication

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